Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 11:112086940 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM020973, CM092194

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11392, 2010_April_001_305_SDHD_602690_0025

This variant has 22 HGVS names - click the plus to show

11:g.112086940C>A
ENST00000528182.5:c.33C>A
ENSP00000435475.1:p.Cys11Ter
ENST00000525987.5:n.38C>A
ENST00000526592.5:c.33C>A
ENSP00000432005.1:p.Cys11Ter
ENST00000532699.1:c.33C>A
ENSP00000456434.1:p.Cys11Ter
ENST00000614349.4:c.33C>A
ENSP00000480666.1:p.Cys11Ter
ENST00000375549.7:c.33C>A
ENSP00000364699.3:p.Cys11Ter
ENST00000525291.5:c.33C>A
ENSP00000436669.1:p.Cys11Ter
ENST00000528021.5:c.33C>A
ENSP00000432465.1:p.Cys11Ter
ENST00000531744.5:c.33C>A
ENSP00000456957.1:p.Cys11Ter
ENST00000530923.5:c.23C>A
ENSP00000432946.1:p.Cys8Ter
ENST00000528048.5:c.33C>A
ENSP00000436217.1:p.Cys11Ter

About this variant

This variant overlaps 24 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays